CTBS p.Arg34=
c.102G>A · rs545745384 · VCV728719
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.45%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.37 | GERP -4.2 |
| Overall | ||
| CADD | 5.974 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.45%
South Asian · 386/85,740 alleles
Filtering AF
0.413%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.399%
Overall
0.0276%
428/1,552,126 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.45% | 222 |
| Middle Eastern | 0.0345% | 2,901 |
| Remaining individualsnot grpmax-eligible | 0.033% | 3,034 |
| Admixed American | 0.00574% | 17,426 |
| European (non-Finnish) | 0.00147% | 67,979 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CTBS
- Protein
- p.Arg34=
- Coding
- c.102G>A
- MANE Select
- NM_004388
- dbSNP
- rs545745384
- Type
- single nucleotide variant
- Location
- chr1:84574314 (GRCh38)
- Gene constraint
- LOEUF 1.084 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.87
Similar variants
- CTBS p.Asn357= Benign ★★ same type
- CTBS p.Ala284Thr Uncertain significance ★ ⚠ same type
- CTBS p.Ala32Val Uncertain significance ★ ⚠ same type
- CTBS p.Arg169Ser Uncertain significance ★ ⚠ same type
- CTBS p.Arg189Gly Uncertain significance ★ ⚠ same type
- CTBS p.Arg277Gln Uncertain significance ★ ⚠ same type
- CTBS p.Arg287Cys Uncertain significance ★ ⚠ same type
- CTBS p.Arg349Gln Uncertain significance ★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ctbs-p-arg34 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown